Ambry announces GenomeNext and GenomeReveal for rare-disease genomic diagnosis
Published in Bioinformatics, Personalized medicine, Tools.
Publication date: October 13, 2026.
Ambry Genetics, a Tempus subsidiary, announced GenomeNext and GenomeReveal on October 13 as a whole-genome sequencing offering for rare-disease diagnosis. The approach combines DNA sequencing, supplemental RNA evidence and continuing reinterpretation as scientific knowledge changes.
GenomeNext uses a pangenome reference intended to represent a wider range of human genetic diversity. GenomeReveal adds RNA analysis when selected DNA findings require functional evidence. Ambry also includes laboratory-initiated reanalysis through its Patient for Life program, which can revisit negative or uncertain findings.
The company’s product page describes analysis of nuclear and mitochondrial variants, structural changes and selected repeat expansions. The announcement concerns the testing offering; it is not a new randomized clinical trial.
Limits: the release cites earlier RNA and exome-reanalysis studies, rather than presenting a prospective diagnostic-yield study of this complete GenomeNext workflow. Those historical results should not be treated as guaranteed performance for rare-disease patients receiving the new offering. A broader genomic analysis can still return uncertain or negative results.
Sources: Ambry’s October 13, 2026 announcement; official GenomeNext and GenomeReveal product information.